HGVS | Genome Assembly |
---|---|
NC_000021.9:g.33026275del , CM000683.2:g.33026275del | GRCh38 |
NC_000021.8:g.34398583del , CM000683.1:g.34398583del | GRCh37 |
NC_000021.7:g.33320453del | NCBI36 |
NG_011834.1:g.5345del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382357.4:c.-63+249del MANE Select | ENSP00000371794.3:n.-63+249del | |
ENST00000333337.3:c.-588del | ENSP00000331040.3:n.-588del | |
ENST00000382357.3:c.-63+249del | ENSP00000371794.3:n.-63+249del | |
ENST00000430860.1:c.-63+15del | ENSP00000391183.1:n.-63+15del | |
NM_005806.3:c.-63+249del | NP_005797.1:n.-63+249del | |
XM_005260908.1:c.-63+15del | XP_005260965.1:n.-63+15del | |
NM_005806.4:c.-63+249del MANE Select | NP_005797.1:n.-63+249del |